Abstract

Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) is a rare autosomal recessive disease caused by mutations in the gene carbohydrate sulfotransferase 3 (CHST3). One SEDCJD proband diagnosed by X-ray and physical examination from a Chinese family was recruited in our study. Genetic testing using the whole exome sequencing (WES) and Sanger was performed for the proband. The target mutation in the proband’s family members and 50 healthy individuals were checked by using Sanger sequencing. A novel homozygous mutation (c.626C>A; p.Pro209Gln) in the CHST3 gene was identified. The family members who have one heterozygous mutation in CHST3 didn’t show any skeletal abnormality. The mutation was not discovered in the 50 healthy individuals. Our study suggested that the homozygous mutation c.626C>A in CHST3 was responsible for SEDCJD. Our study contributed to the further expansion of the CHST3 mutation spectrum, and demonstrated the genotype-phenotype relationship between mutations in the CHST3 gene and clinical findings of SEDCJD.